Results 51 to 60 of about 209 (127)

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Association of 4-basepair G-to-A transition in the 5′-untranslated region of ANKH gene with selected patients of primary knee osteoarthritis: A cross sectional study

Journal of Family Medicine and Primary Care, 2019
Method: A cohort study was carried out for a year to evaluate the presence of G-to-A transition in 5′-untranslated region of ankylosis human (ANKH) gene in Indian Khatri patients (closely resembling Europeans of primary knee osteoarthritis (OA), residing
Puneet Kumar, Aarti Sharma, Siddharth Das, Ragini Srivastava, Nikhil Gupta   +4 more
doaj   +1 more source

Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of CLDN16 Mutation

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) is a rare tubulopathy resulting from mutations in the CLDN16 and CLDN19 genes. The affected individuals commonly present with polyuria, polydipsia, excessive urinary magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, nephrolithiasis, recurrent urinary tract ...
Abdullah Al Noman Bhuiyan, Nazia Akter, Tahniyah Haq, Md. Fariduddin, Shahjada Selim   +4 more
wiley   +1 more source

Change perspective to increase diagnostic accuracy of ultrasonography in calcium pyrophosphate dihydrate deposition disease! A new approach: the axial scan of the meniscus

Reumatismo, 2015
Ultrasonography (US) is a relevant tool in the study of calcium pyrophosphate dihydrate (CPP) deposition disease. However, differential diagnosis of hyperechoic deposits within the fibrocartilage can be difficult; moreover, US study is limited by the ...
G. Filippou, V. Picerno, A. Adinolfi, V. Di Sabatino, I. Bertoldi, M. Galeazzi, B. Frediani   +6 more
doaj   +1 more source

First Report of Intervertebral Disc Calcification in a Black Child in Sub‐Saharan Africa

Clinical Case Reports, Volume 13, Issue 10, October 2025.
Standard X‐ray of the cervical spine from the front and in profile. Blurred appearance of the C2–C3 and C3–C4 vertebral endplates and calcification (orange arrow) in the intervertebral disc of C2–C3. ABSTRACT We report an intervertebral disc calcification in a Black African child who had consulted us for neck pain. The diagnosis of C2–C3 intervertebral
Yamyelle Enselme Zongo, Ismael Ayouba Tinni, Hamiidah Hunsu‐Horhon Guingani, Yannick Laurent Tchenadoyo Bayala, Aboubakar Ouedraogo, Fulgence Kabore, Wendlassida Stéphanie Joelle Zabsonré/Tiendrebeogo, Dieu‐Donné Ouedraogo   +7 more
wiley   +1 more source

Adsorption of Proteins on m-CPPD and Urate Crystals Inhibits Crystal-Induced Cell Responses: Study on Albumin-Crystal Interaction

Journal of Functional Biomaterials, 2019
The biological effects and cellular activations triggered by monosodium urate (MSU) and calcium pyrophosphate dihydrate (monoclinic: m-CPPD) crystals might be modulated by protein coating on the crystal surface.
Felix Renaudin, Stéphanie Sarda, Laure Campillo-Gimenez, Childérick Séverac, Thibaut Léger, Cédric Charvillat, Christian Rey, Frédéric Lioté, Jean-Michel Camadro, Hang-Korng Ea, Christèle Combes   +10 more
doaj   +1 more source

Bone status and aortic calcifications in chondrocalcinosis patients

Romanian Journal of Laboratory Medicine, 2020
Aim: We aimed to examine the association between several circulating bone turnover markers [ osteocalcin (OC), osteoprotegerin (OPG), beta-CrossLaps (β-CTx)], hip and spine bone mineral density (BMD) and abdominal aortic calcification (AAC) in patients ...
Vele Paulina, Silaghi Ciprian Nicolae, Damian Laura Otilia, Simon Siao-Pin, Craciun Alexandra, Rednic Simona   +5 more
doaj   +1 more source

Recurrent c.‐11C>T change located upstream of the normal ATG initiation codon of ANKH causes self‐limited familial infantile epilepsy

Epilepsia, Volume 66, Issue 10, Page 3972-3978, October 2025.
Abstract Objective Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by a c.‐11C>T change upstream of the gene's normal ATG initiation codon of ...
Josua Kegele, Hendrik Juenger, Harald Frantzmann, Dieter Gläser, Marc Sturm, Holger Lerche, Tobias B. Haack, Ingrid Bader   +7 more
wiley   +1 more source

Lumbar Spine Pseudogout Mimicking Disc Prolapse and Radiculopathy: A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research
Calcium Pyrophosphate Dihydrate (CPPD) deposition disease, also known as pseudogout, is a crystal-induced arthropathy that primarily affects larger, weight-bearing joints such as the knees, hips, and shoulders.
Aishwarya Manish Bhaskare, Maithili Mandar Kulkarni, Shital Gosavi, Jaai Naiknavare, Siddhi Gaurish Sinai Khandeparkar   +4 more
doaj   +1 more source

An Organ‐on‐Chip Platform for Strain‐Controlled, Tissue‐Specific Compression of Cartilage and Mineralized Osteochondral Interface to Study Mechanical Overloading in Osteoarthritis

Advanced Healthcare Materials, Volume 14, Issue 23, September 8, 2025.
A mechanically active OsteoChondral Unit (OCU)‐on‐Chip platform mimicking the OCU's functional anatomy and the strain gradient across the osteochondral interface is presented. Upon compartment‐specific hyperphysiological compression, the model replicates mechanisms observed in osteoarthritis (OA) progression, such as calcium crystal accumulation ...
Andrea Mainardi, Anastasiya Börsch, Paola Occhetta, Robert Ivanek, Martin Ehrbar, Lisa Krattiger, Philipp Oertle, Marko Loparic, Ivan Martin, Marco Rasponi, Andrea Barbero   +10 more
wiley   +1 more source